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Discovering Precision Health: Predict, Prevent, and Cure to Advance Health and Well-Being
Discovering Precision Health: Predict, Prevent, and Cure to Advance Health and Well-Being
Discovering Precision Health: Predict, Prevent, and Cure to Advance Health and Well-Being
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Discovering Precision Health: Predict, Prevent, and Cure to Advance Health and Well-Being

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Today we are on the brink of a much-needed transformative moment for health care.

The U.S. health care system is designed to be reactive instead of preventive. The result is diagnoses that are too late and outcomes that are far worse than our level of spending should deliver. In recent years, U.S. life expectancy has been declining.

Fundamental to realizing better health, and a more effective health care system, is advancing the disruptive thinking that has spawned innovation in Silicon Valley and throughout the world. That's exactly what Stanford Medicine has done by proposing a new vision for health and health care. In Discovering Precision Health, Lloyd Minor and Matthew Rees describe a holistic approach that will set health care on the right track: keep people healthy by preventing disease before it starts and personalize the treatment of individuals precisely, based on their specific profile.

With descriptions of the pioneering work undertaken at Stanford Medicine, complemented by fascinating case studies of innovations from entities including the Chan Zuckerberg Biohub, GRAIL, and Impossible Foods, Minor and Rees present a dynamic vision for the future of individual health and health care. You ll see how tools from smartphone technology to genome sequencing to routine blood tests are helping avert illness and promote health. And you'll learn about the promising progress already underway in bringing greater precision to the process of predicting, preventing, and treating a range of conditions, including allergies, mental illness, preterm birth, cancer, stroke, and autism.

The book highlights how biomedical advances are dramatically improving our ability to treat and cure complex diseases, while emphasizing the need to devote more attention to social, behavioral, and environmental factors that are often the primary determinants of health.

The authors explore thought-provoking topics including:
  • The unlikely role of Google Glass in treating autism
  • How gene editing can advance precision in treating disease
  • What medicine can learn from aviation
Discovering Precision Health showcases entirely new ways of thinking about health and health care and can help empower us to lead healthier lives.
LanguageEnglish
PublisherWiley
Release dateJan 23, 2020
ISBN9781119672746
Discovering Precision Health: Predict, Prevent, and Cure to Advance Health and Well-Being

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    Discovering Precision Health - Lloyd Minor

    ABOUT THE AUTHORS

    Lloyd Minor, MD, is a scientist, surgeon, and academic leader. He is the Carl and Elizabeth Naumann Dean of the Stanford University School of Medicine, a position he has held since December 2012. He is also a professor of otolaryngology–head and neck surgery and a professor of bioengineering and of neurobiology, by courtesy, at Stanford University.

    As dean, Dr. Minor plays an integral role in setting strategy for the clinical, research, and teaching missions of Stanford Medicine, an academic medical center that includes the Stanford University School of Medicine, Stanford Health Care, and Stanford Children’s Health and Lucile Packard Children’s Hospital Stanford. Dr. Minor led the first integrated strategic planning process for Stanford Medicine. With his leadership, Stanford Medicine has established a strategic vision to lead the biomedical revolution in Precision Health (predict, prevent, and cure—precisely), a fundamental shift to more proactive and personalized health care that empowers people to lead healthy lives.

    Before coming to Stanford, Dr. Minor was provost and senior vice president for academic affairs of Johns Hopkins University. Prior to his appointment as provost in 2009, Dr. Minor served as the Andelot Professor and director (chair) of the Department of Otolaryngology–Head and Neck Surgery in the Johns Hopkins University School of Medicine and otolaryngologist‐in‐chief of the Johns Hopkins Hospital.

    With more than 140 published articles and chapters, Dr. Minor is an expert in balance and inner ear disorders. In the medical community, he is perhaps best known for his discovery of superior canal dehiscence syndrome, a debilitating disorder characterized by sound‐ or pressure‐induced dizziness. He subsequently developed a surgical procedure that corrects the problem and alleviates symptoms.

    In 2012, Dr. Minor was elected to the National Academy of Medicine.

    Matthew Rees is the founder of Geonomica, an editorial consulting firm that works with clients on speeches, books, articles, white papers, and other written materials. He is the co‐author, with former IBM CEO Samuel J. Palmisano, of Re‐Think: A Path to the Future, a book about the globally integrated enterprise and the emergence of the global economy.

    Mr. Rees is also a senior fellow at Dartmouth’s Tuck School of Business. He was the founder of FT Newsmine, a weekly email brief he produced in partnership with the Financial Times from 2009 to 2017.

    Mr. Rees’s government experience includes serving as a speechwriter for President George W. Bush; the national security adviser, Condoleezza Rice; and the U.S. trade representative, Robert Zoellick. He also served as a speechwriter and senior adviser for the chairman of the Securities and Exchange Commission, William Donaldson.

    During a 10‐year career in journalism, Mr. Rees wrote for many of America’s most respected publications. He was employed in Washington for the Weekly Standard, the Economist, and the New Republic, and in New York and Brussels for the Wall Street Journal. Mr. Rees’s writing has also appeared in the New York Times, the Washington Post, the International Economy, Reader’s Digest, and Finance & Development (a publication of the International Monetary Fund). He is a frequent contributor of book reviews to the Wall Street Journal. A native of Lafayette, California, Mr. Rees is a graduate of Wesleyan University.

    ACKNOWLEDGMENTS

    The idea for a book describing Stanford Medicine’s vision for Precision Health was suggested to me in 2016 during discussions with faculty and staff who were working on plans for the initiatives that have become a part of this vision. Bob Harrington, chair of the Department of Medicine, and Priya Singh, chief strategy officer and senior associate dean for Stanford Medicine, were leaders of this planning process. It has been heartening to see the engagement of our communities in the planning, communication, and execution of the strategy for Precision Health. Those who encouraged me to write the book were correct that the process of writing would help us to shape ideas and plans for the future. The book is also a reflection of a dictum, first emphasized to me by Jay Goldberg (my scientific mentor at the University of Chicago), that concepts only become meaningful and incisive when they are written, revised, and refined.

    I have the honor of working every day with wonderful colleagues at Stanford. Their work is a constant source of inspiration for me and for so many others. The patients who entrust their care to us provide a grounding and focus to our scientific and educational pursuits. Our partnership with them is a privilege never to be taken for granted.

    Although this book turned into a larger and lengthier project than initially envisioned, I want to express my regret that I could not describe all of the people, projects, and activities that are having a transformative impact. The same can be said for my description of companies focused on digital health, where there are also many more than I can cover here.

    I want to thank Harry Clark for introducing me to Matt Rees. Matt’s keen insights and his assistance with the interviews and writing enabled this book to be completed. Jessica Best, director of strategic initiatives and communications, is an exceptionally talented writer and gave us valuable feedback on the manuscript. Sandy Yujuico, chief of staff in the Dean’s Office, arranged and coordinated the interviews and helped us keep the project on track. Esmond Harmsworth, our literary agent, provided valuable assistance during every step of the process.

    Finally, and most importantly, I want to express my appreciation to my family. Lisa Keamy, my wife, has been my partner, companion, and adviser for these past 32 years. Her love and support energize and motivate me every day. Our children, Emily and Sam, amaze and inspire us as we watch their journey through life. Phoebe and Watson, our canine companions, make even the most challenging days seem a lot better.

    Lloyd Minor

    Stanford, California 2019

    Working on this book has been the most intellectually stimulating project of my professional life. It has been a privilege to collaborate with Lloyd Minor and help explain his inspiring vision for a new approach to health and well‐being. I am particularly grateful to Lloyd for enabling me to interview so many distinguished members of the faculty at Stanford’s School of Medicine, as well as a remarkable collection of entrepreneurs and investors. Harry Clark is a valued friend who introduced me to the School of Medicine’s leadership—making this one more in a long line of fascinating projects he has referred to me. I want to thank my wife, Nina, and my daughter, Sophia, for their everyday love and support, and for accommodating my sometimes‐chaotic schedule. My parents, Don Rees and Marilyn Rees, both Stanford graduates, laid the foundation that has enabled me to have a rewarding career and a fulfilling life.

    Matthew Rees

    McLean, Virginia 2019

    INTRODUCTION

    THE POWER OF PRECISION HEALTH

    Imagine yourself in the not‐too‐distant future. Routine genomic screening tests, available at the time of birth, have shown that you have genetic variants that place you at high risk for pancreatic cancer in your adult years. Because of this propensity, you have elected to participate in a regular program of non‐invasive screening tests that are designed to provide early detection of any tumor development in your pancreas. Every six months you take a pill that will cause a pancreatic tumor (if one exists) to shed a novel synthetic biomarker that can be detected in the urine.

    Several days after you take one of the early cancer detection pills, your home’s smart toilet automatically detects the synthetic biomarker in your urine. A device that is part of the smart toilet sends an alert to you on your smart phone, and to your primary care physician, who has your consent to receive information about these screening tests. To ensure the signal from the smart toilet is not a false positive, the signal is monitored in your urine over several days.

    You follow the physician’s recommendation to undergo imaging studies with molecular tracers that will identify the location of the tumor and ensure the toilet device was correct. A pancreatic tumor is detected that measures 1 cubic millimeter and there is no evidence that it has spread to other sites. You are given targeted therapies, which activate your immune system and destroy the tumor while it is still at an early stage of development. You continue the plan of close surveillance and monitoring with an early cancer detection pill every six months.

    As I will describe in the pages that follow, all the components of this scenario are within our grasp today. We are in the midst of a revolution in science and technology related to the mechanisms of disease and, of equal importance, to the determinants of health and well‐being. The impact of these advances and their broad dissemination are going to have a profound effect on our ability not just to treat diseases but to prevent them from developing in the first place. And in those instances when diseases cannot be prevented, they will be diagnosed much earlier and therefore treated much more effectively.

    The example above illustrates just how transformative the results of this revolution are going to be. With pancreatic cancer today, there are no good tools for early detection, which means it is typically diagnosed much later in the course of tumor progression. In 80–95 percent of diagnoses, the cancerous tumor is locally advanced or metastatic [1]. As a result, 74 percent of all people with pancreatic cancer die within one year of diagnosis [2]. In 2017, this cancer resulted in the deaths of more than 43,000 people in the United States [3].

    This vignette is emblematic of what the future of medicine should look like—and what I think it will look like—soon. Because for the first time in history, the world is starting to see the possibility of a new kind of medicine and health care. Instead of a race to cure disease after the fact, we can win the race before it even begins by preventing disease before it strikes—and curing it decisively if it does.

    This approach is what we in Stanford Medicine have labeled Precision Health because it helps individuals thrive based on all factors specific to them, from their genetics to their lifestyle choices to their environment. It is based on the powerful idea that health care should promote health and wellness as much as it defeats disease.

    Simply stated, the goals of Precision Health are to predict, prevent, and cure, precisely. And in that order, because more accurate prediction of propensity for disease will lead to more specific approaches for prevention. Even in cases where disease cannot be prevented altogether, diagnosing diseases much earlier in their course will mean that our ability to achieve cures will be greater than now. All too often today we identify diseases much too late to have the type of treatment outcome all of us would like to achieve.

    THE PRECISION HEALTH PAST—AND PRESENT

    The principles underpinning Precision Health reach back many years. The authors of a paper presented at a meeting of the American Public Health Association in 1873 wrote that the custom of society must be changed so that the physician is employed to prevent rather than to cure diseases [4]. Twenty years later, William Osler—often thought of as the originator of modern medicine—helped to found the medical school at Johns Hopkins University. And he was clear about the need for patient‐centered medicine. The good physician, said Osler, treats the disease; the great physician treats the patient who has the disease. As a staunch advocate of prevention, Osler was well ahead of his time. He believed in both the power of scientific evidence and the power of bedside medicine. Precision Health is Osler’s heir—the modern incarnation of his dual focus on rigorous science and the enduring physician‐patient bond.

    A focus on prevention was also at the heart of groundbreaking research that began in 1948. That year marked the launch of the Framingham Heart Study, which was an in‐depth exploration of cardiovascular disease. At the time, the disease affected one of every three men in the United States, and it was twice as common as cancer [5]. Yet its cause was unknown. To better understand cardiovascular disease, an arm of the National Institutes of Health recruited more than 5,200 volunteers, between the ages of 30 and 59, in the Massachusetts town of Framingham to participate in a study. Each of the volunteers would be examined every two years, for a period of 20 years.

    It became the most comprehensive such study ever undertaken and it continues today, with its third generation of participants. The discoveries it has brought forth have greatly expanded our understanding of the causes of cardiovascular disease and how to prevent it, through diet, exercise, and avoiding tobacco. Data from the study is the foundation of several risk prediction calculators for heart conditions, along with diabetes, fatty liver disease, and hypertension [6].

    The knowledge unlocked by the Framingham Heart Study is a reminder of why researchers need to continue exploring the causes of different diseases—and to focus on preventing those diseases. Looking into the future, Project Baseline, a contemporary sequel to the Framingham study, holds the promise of dramatically increasing our understanding of health and disease by analyzing an enormously greater number of parameters. Like the Framingham study, Project Baseline, which I describe in more detail in the conclusion, is a longitudinal cohort study. One of its goals is tracking these parameters, and the health of the study volunteers, for a period of years.

    KEY PRINCIPLES OF PRECISION HEALTH

    There are many different dimensions of Precision Health, which I will elaborate on in this chapter and throughout the book. But some of the key features include the following:

    Predictive and Preventive

    Precision Health draws on the enablers of precision medicine—genomics, big data science, and regenerative medicine—but applies them in a predictive and proactive way. While precision medicine implies that individuals who get sick are treated precisely, Precision Health is focused on a holistic approach to keeping people healthy through targeted interventions and stopping disease before it starts. It seeks to understand the features of disease that explain why some people get sick when others do not, and which treatments, tests, and lifestyle changes will help prevent disease in each individual. When it isn’t possible to altogether prevent a disease, Precision Health seeks to improve diagnostics such that diseases are detected much earlier and treated more effectively.

    Personalized and Precise

    With Precision Health, all forms of health and medical care are tailored to individual variations. That means doctors are able to provide every therapy based on what’s known about a patient: their genetics, their metabolomics, all their ‐omics, their imaging, everything about them. As my colleague Thomas Robinson says, Precision Health is about identifying the right interventions, for the right person, at the right place, at the right time, in the right sequence. And information technology is deployed so that health professionals can confidently tell their patients, You are going to benefit most from doing the following.

    Patient‐Centered

    Health care today is often a complex and confusing journey, characterized by fragmentation and care on a disease‐by‐disease basis. Precision Health makes providers own the complexity of care for their patients, providing care that is seamless, coordinated around their needs, and based on the best science.

    Participatory

    Precision Health is focused on empowering individuals to monitor their own health. It breaks with the long‐standing practice of people interacting with the medical system sporadically (the annual check‐up)—or when driven by illness or disease. Patients and their families get involved in the care delivery experience through practices such as continuous monitoring (as in the example provided in the scenario above). A rough parallel comes from the way in which financial institutions use algorithms to monitor their customers’ spending. If there’s suspicious activity, customers may be contacted and asked to confirm certain transactions. We are getting to a point where technologies can do the same monitoring of our bodies, and immediately alert us—or our health care team—if something is amiss.

    Preeminent

    The United States performs poorly on some broad measures of health compared to other developed nations. Precision Health delivers value by focusing on ways to both improve outcomes and cut costs. These two goals can be achieved in tandem. Precision Health seeks to lower costs through early detection, prevention, accurate risk assessment, and efficiencies in care delivery.

    Precision Health applies to people of all ages, and it’s an attempt to understand all the different trajectories of life. But the health care of children, coupled with maternal and fetal health, are given special emphasis, since they are at the beginning of life’s trajectory. Mothers have an extraordinary influence on the future life of their children—and that influence begins even before they become pregnant. New technologies and new approaches are being used to look at pregnancy in entirely new ways. Everything we learn becomes part of large data sets to create a comprehensive picture of pregnancy. We can then extract information for the purpose of predicting—and preventing—certain outcomes.

    High Touch and High Tech

    In the high touch environment we want to develop, physicians will return to some of the wisdom of figures like William Osler. Doctors need to recognize the intimate bonds with their patients when performing hands‐on examinations and listen to their concerns with empathy. This is part of a time‐honored ritual and enables health professionals to gain critical information that differs from what they learn through lab tests and radiological scans. This kind of rich, nuanced data—what is important to patients, what they fear, how their symptoms manifest and how they feel—must also factor into a truly holistic approach to health care. As my Stanford colleague Abraham Verghese has written, True clinical judgment is more than addressing the avalanche of blood work, imaging and lab tests; it is about using human skills to understand where the patient is in the trajectory of a life and the disease, what the nature of the patient’s family and social circumstances is and how much they want done [7].

    Precision Health can—and should—strengthen the doctor‐patient relationship, and it should allow each of us to be more participatory in decisions as well as activities that have an impact on our health and wellbeing. As Stanford’s Sanjiv Sam Gambhir points out, Precision Health

    creates an opportunity for the entire health care team, including physicians, to utilize more detailed and comprehensive health data sets to be better informed about their patients’ individualized health. In turn, it allows physicians to more accurately address their patient’s health risk profile and tailor monitoring methods and early intervention to that individual. This type of approach will empower doctors to be more focused and directed in how they treat patients [8].

    For patients, says Gambhir,

    increased health monitoring allows them to more proactively engage in their own health—in some cases in real time—and see how it relates to their lifestyle and other health factors. Rather than simply follow a standard appointment schedule, patients would only visit their physician when needed, but they could still have contact with their health care team through a secure health portal [9].

    The emphasis on high touch is complemented by a focus on high tech. Technology has spawned new fields like genomics, nanoscience, regenerative medicine, and biomedical data science. It is enabling health care professionals to piece together a high‐resolution picture of human health at the population level. Euan Ashley, a professor of cardiology at Stanford, explains, The fundamental concept of precision health is the idea of defining disease better in order to target it more precisely. And how do we define disease better? We do it with new technology. If you look at the history of medicine, we’ve always defined disease according to the state‐of‐the‐art tools of the time. He points out that in decades past, a cardiologist sought to diagnose heart disease by listening to the sounds coming through the stethoscope. But when someone invented the electrocardiogram, we started to define heart disease according to the electrical signals from the heart [10].

    The ultimate objective of Precision Health is not just to glimpse the finer details of health and disease—it’s to consistently track and actively apply the findings to detect disease earlier, if not prevent it altogether [11].

    THE TIME IS RIGHT FOR PRECISION HEALTH

    The three fundamental components of Precision Health (predict, prevent, and cure) share many of the same enablers. Specifically, they are all being driven by ongoing advances in science and technology. The ability to achieve precision is based on progress in our understanding of biological processes and the application of this knowledge to specific challenges and opportunities in human health.

    These expansions of understanding are driving a scientific revolution. If the 19th century was all about chemistry and the 20th century about physics, the 21st century will be about biology. There is enormous excitement about the present and future being about biology, given its evolution into a quantitative discipline after being transformed by chemistry and physics.

    With biomedical knowledge having grown exponentially over the past two decades, we have new insights into how life works. Astonishing advances are offering up possibilities that were unimaginable just a few years ago. New tools that will allow us not only to heal disease, but to predict and prevent it, are finally within our reach. New technologies are accelerating medical discoveries and help to tailor care to each individual’s unique situation. We live in a time of remarkable progress in medicine.

    The biomedical sciences are undergoing unprecedented changes as the pace of discovery accelerates. We can now build on fundamental research taking place in genomics, proteomics, metabolomics, data science, regenerative medicine, artificial intelligence, nanoscience, biotechnology, and engineering to deliver Precision Health that is predictive and preventive.

    Fundamental, discovery‐based research will be of central importance to all future advances in predicting, preventing, and curing disease. There has never been a more exciting time for investigator‐initiated research aimed at understanding the way living systems work at the cellular and molecular level—because the more we learn, the more we also recognize how much we don’t know. In the chapters that follow, I will describe some of these transformative discoveries and share the stories of remarkable scientists who have done and are doing this work.

    In addition to the prodigious pace at which discovery‐based research is advancing, our ability to translate these discoveries into direct benefits for human health is accelerating at an ever‐increasing pace. The time from bench to bedside—shorthand for the time it takes between when therapies are being researched and when they are being used—is being accelerated in many areas. Further, direct observations and studies of health and disease are now being taken back to the laboratory to drive discovery‐based research in ways that were unimaginable just a decade ago. In the chapters that follow, I will provide an overview of the processes of translational medicine by sharing examples of areas of transformative impact that we are already seeing.

    Advances in digital technology are also fueling the success and impact of Precision Health. It is a curious fact that up until very recently, consumer technology has had relatively little impact on the way health care is delivered or the way each of us obtains information about our health. This is in sharp contrast to every other aspect of the economy where technology has radically transformed our lives. From the way we order goods and services to the way we conduct financial transactions, many day‐to‐day activities today are radically different than they were just a decade ago. Yet all too frequently today we still transmit medical records by fax machines and compact discs. Information about our health remains trapped within electronic medical records and health care delivery systems in ways that make it challenging to access and even more difficult to analyze. This landscape needs to change. In the chapters that follow, I will explore some of the exciting enablers in digital health at the level of both consumer‐facing devices and technologies and artificial intelligence applied to large biomedical and health‐related data sets.

    But there is more to the Precision Health revolution than science and technology. Social, environmental, and behavioral determinants of health play a larger role in the well‐being of most of us than do traditional medical care and our genomic profile. It’s a startling and disappointing fact that in the United States the zip code in which a person lives is more predictive of his or her life expectancy than that person’s genetics [12]. In the chapters that follow, I will highlight how some of those social, environmental, and behavioral determinants impact health as well as important work being done outside medicine that’s promoting health and well‐being.

    One catalyst for launching Precision Health was the recognition that many of the outcomes from U.S. health care (broadly defined) have been disappointing. The United States spends more of its GDP on health care than any other country in the world. Yet the U.S. ranks below many of the most industrialized nations by standard outcome measures such as longevity [13] and infant mortality [14].

    There are a variety of reasons for these outcomes, but the health care system certainly shoulders some of the blame. As I explain in the next chapter, the system is largely reactive, one‐size‐fits‐all, fragmented, detached and disconnected from patients, and riddled with misguided incentives and opaque pricing. Precision Health can help remedy these shortcomings and ultimately deliver improved health outcomes.

    ABOUT ME

    Born in Little Rock, Arkansas, I grew up in a home that placed great emphasis on education. I attended all‐white schools through the eighth grade, but as a part of a court‐ordered desegregation plan, I was bused to a junior high school across town for ninth grade. This was a defining moment in my life. I immediately learned that what was billed as separate but equal was separate but certainly not equal. In the scarcely stocked library, books on the lower shelves had been damaged by rats. Banisters were missing from stairwells. Plaster was peeling from the walls. These were the bitter fruits of racial prejudice. It was eye‐opening to see this injustice, and it had a profound effect on me. It kindled in me an interest in diversity and inclusion that continues to this day.

    I attended the famously desegregated Little Rock Central High School where I was inspired by the elegance and rigor of math, physics, and chemistry. But I was also drawn to the challenges of bringing more quantitative approaches to biology. It was then that I first thought about the importance of using these disciplines to solve real‐world problems and bring profound benefits to the lives of people. Becoming a physician‐scientist was at the intersection of these interests.

    While at Brown University for college and medical school, I took a bioengineering course as an undergraduate that sparked my interest in the physiology of the inner ear balance system (known as the vestibular system). The course focused on the use of mathematical and engineering models to study and understand physiological systems. The professor used the vestibular system, and the eye movements that depend upon input from it, as an example of how you could use relatively straightforward mathematical models to describe the way the system worked. Even more importantly, you could also state hypotheses, design experiments, and interpret data in the conceptual framework established by these models. This approach appealed to my fascination with how complex systems work, and I devoted my early career to understanding the vestibular system and treating disorders that result from its dysfunction.

    My goals and my training as a scientist and clinician emphasized an understanding of the functional mechanisms of the system I was studying and the ways those mechanisms are altered in disease. As was the case for most of my generation of physician‐scientists, I was firmly focused, in the parlance of this book, on the cures aspect of medicine. It was through my experiences as a scientist pursuing basic research directed towards understanding the intricate physiology of the vestibular system, and a clinician focused on the diagnosis and treatment of vestibular disorders, that I experienced first‐hand the impact of discovery‐focused research on health and medicine.

    In the spring of 1995, two years after I had joined the faculty of the Department of Otolaryngology—Head and Neck Surgery at Johns Hopkins, a man came to my office and explained that he was suffering from a bizarre set of symptoms. For example, when he sang in the shower, he would see the shampoo bottle, the loofah, and the shower head moving in a circular motion. Similarly, if he hummed a tone or heard certain loud noises in his right ear while looking in the mirror, he saw that his eyes were moving in conjunction with the sounds. When I tested him, I could clearly see that his eyes moved in a consistent pattern—upward and counterclockwise—and the pattern was tightly linked to the sound.

    I suspected the problem stemmed from an opening in the bone that should cover the superior semicircular canal, which is one of the three tiny canals hidden deep within the inner ear. (These canals serve as part of the vestibular system, a set of inner‐ear structures that provide input to the brain on motion, equilibrium, and spatial orientation.) I made this hypothesis because there is a well‐recognized relationship between the orientation of individual semicircular canals and the eye movements evoked by stimulation of these canals (activation of a canal results in eye movements in the plane of the canal). An opening in the bone covering the superior canal would, I reasoned, make it responsive to sound and pressure stimuli because of the mechanical flow of fluids in the inner ear. Several years of studies on this and other patients with similar symptoms and signs accompanied by related basic research confirmed that this was, indeed, the mechanism.

    I named this condition superior canal dehiscence (SCD) syndrome, and my colleagues and I at Johns Hopkins developed an operation to correct it. We published the first paper describing the disorder in 1998 and also showed that there were specific hearing abnormalities associated with it [15]. It’s been extremely satisfying to know that hundreds of people have now had operations to treat SCD and that their everyday lives have been improved.

    My point in mentioning this work here is that it was an understanding of the physiology of the vestibular system, informed by discovery‐based research, that enabled this syndrome to be identified and subsequently treated. SCD as a disorder did not originate with the patients I initially saw in 1995. There had been reports in the medical literature over several previous decades describing people with symptoms that were almost certainly due to this disorder. But the association with a specific abnormality of the vestibular system had never been made because the scientific underpinnings had never been studied. There are many examples in this book of scientific advances that have led to improvements in human health that were not necessarily anticipated or planned.

    A desire to impact research, education, and health systems on a broader level eventually led me to leadership positions in medicine and research universities, culminating in a position as dean of medicine at Stanford. I also came to realize that having a truly transformative impact on health and health care delivery requires much more emphasis on prediction and prevention than has been the case in the past.

    Along the way, in my educational, training, and work experiences I have learned the values of listening carefully, acquiring and imparting rigorous scientific and technical training, and assessing the potential for systems errors that can lead to adverse consequences. In my own work and in the activities of others I have seen the value of persistent and diligent struggle in the face of uncertainty, complexity, and the risk of failure. I have come to appreciate the power inherent in the interface between technology and health. I also learned, firsthand, the importance of working within an environment rich in multiple complementary disciplines where ideas can cross‐pollinate and expertise can be leveraged in new and creative ways.

    I happily find myself in one of the few places where this vision of Precision Health can become a reality. At Stanford, we can draw on our world‐class medicine, basic biological and physical sciences, engineering, and computer science, along with our renowned statisticians, educators, social scientists, ethicists, designers, economists, and business and legal scholars—not to mention our collaborative relationships with leading Silicon Valley innovators.

    THE ORIGINS OF PRECISION HEALTH AT STANFORD

    Having spent my professional life in and around research universities and academic medical centers, I—like many other health care professionals with experiences similar to mine—was full of opinions about how to improve care and how to make academic medical centers more effective. All of my education and work history helped to shape my approach to leading Stanford Medicine. But when it came to developing the Precision Health vision, there were three things in particular that influenced me: a conference, a speech, and a book.

    The conference was hosted by the University of California, San Francisco (UCSF) in May 2013, just six months after I had become dean at Stanford. Susan Desmond‐Hellman, then the chancellor at UCSF, brought together leaders from biomedical research, medical practice, government, and industry—the meeting featured the director of the NIH, the governor of California, and the CEO of Facebook, among others. We were all there to discuss how to move from one‐size‐fits‐all treatments for diseases to medical care that is tailored to the distinctive features of each individual. This was billed as precision medicine, and it was timely. There was already evidence of the impact of applying genomics and data science to the treatment of severe acute diseases such as breast cancer. No longer was the same treatment recommended to all women based simply upon the size of the tumor and presence or absence of distant metastatic disease. The development of specific antagonists, whose efficacy was determined based upon specific receptors present or absent in tumors, was having a major effect on improved survival (and those effects are even greater today).

    The discussions were stimulating and thought provoking. And while the precision part of the event intrigued me, I was struck by the focus on medicine. Everything on the agenda revolved around disease—almost as if it was inevitable. Curing disease is critical, of course, but preventing disease is even better.

    Another influence on my thinking was a speech delivered by Elias Zerhouni, a former director of the NIH and later president of R&D for Sanofi. He spoke eloquently at a Stanford Medicine retreat in January 2014 about the need for a shift in the practice of medicine. While a focus on cures remained critically important, he recommended placing heightened emphasis on predicting and preventing disease. He also called for developing a better understanding of disease mechanisms. His talk built on a theme he had introduced during his time at NIH, which was for medicine to be predictive, personalized, preemptive, participatory.

    The book that influenced my thinking was The Decision Tree, by Thomas Goetz, who at the time was executive editor of Wired magazine [16]. The decision tree of his title was a system that would help guide people toward the best decisions about their health—drawing on new science and new technologies, in particular. I found it to be an excellent overview of the different ways in which health and health care could be reoriented to focus more on prevention.

    With all of that as a backdrop, in November 2014 I had breakfast at Buck’s—a popular restaurant a few miles from Stanford—with two professors at the School of Medicine, Peter Kim and Steve Quake. I had asked them to meet with me because I wanted to brainstorm about some of the overarching themes for the work of the medical school, and I knew I could count on them for insightful and creative ideas.

    My colleagues and I had recruited Peter to join the faculty—his previous positions included leading global R&D for Merck and serving as a professor at MIT’s Whitehead Institute for Biomedical Research. Steve had developed a way of measuring and detecting cell‐free DNA, which was one of the greatest diagnostic advances of the first decade of the 21st century. (I discuss it in more detail in chapter 5.)

    We discussed several principles and topics—such as behavior, genomics, economics, measurement, prevention, and prediction. But the first two words I wrote in my notebook that morning were precision and health. With Steve’s background in diagnostics, we were able to talk about shifting the focus of health care so there would be more emphasis on the health part. The three of us agreed that Stanford was uniquely positioned to put forward a new vision, built around using prediction and prevention to advance health.

    Our breakfast discussion led me to sketch out several ideas, which I presented in my closing remarks at a Stanford Medicine retreat in January 2015, at Fort Baker near San Francisco. I didn’t go into great detail—I just wanted people to hear some of my preliminary thoughts about Precision Health

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